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Wyświetlanie 1-6 z 6
Tytuł :
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Autorzy :
Tenenbaum-Rakover Y; Pediatric Endocrine Unit, Ha'Emek Medical Center, and Technion Faculty of Medicine, 31096 Haifa, Israel. />Grasberger H
Mamanasiri S
Ringkananont U
Montanelli L
Barkoff MS
Dahood AM
Refetoff S
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2009 May; Vol. 94 (5), pp. 1706-12. Date of Electronic Publication: 2009 Feb 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Hyperthyroidism/*genetics
Mutation/*physiology
Receptors, Thyrotropin/*genetics
Thyrotropin/*blood
Adolescent ; Adult ; Age of Onset ; Aged ; Animals ; Arabs ; COS Cells ; Child ; Child, Preschool ; Chlorocebus aethiops ; Consanguinity ; DNA Mutational Analysis ; Female ; Genetic Linkage/genetics ; Genotype ; Haplotypes ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutagenesis, Site-Directed ; Pedigree ; Phenotype ; Thyroid Function Tests ; Young Adult
Czasopismo naukowe
Tytuł :
Identification of TSH receptor mutations in three families with resistance to TSH.
Autorzy :
Tonacchera M; Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università di Pisa, Pisa, Italy. />Di Cosmo C
De Marco G
Agretti P
Banco M
Perri A
Gianetti E
Montanelli L
Vitti P
Pinchera A
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Źródło :
Clinical endocrinology [Clin Endocrinol (Oxf)] 2007 Nov; Vol. 67 (5), pp. 712-8. Date of Electronic Publication: 2007 Aug 13.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Receptors, Thyrotropin/*genetics
Thyroid Hormone Resistance Syndrome/*genetics
Thyrotropin/*metabolism
Adolescent ; Adult ; Animals ; Base Sequence ; COS Cells ; Child ; Chlorocebus aethiops ; Cyclic AMP/metabolism ; Female ; Genotype ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Mutagenesis, Site-Directed ; Pedigree ; Receptors, Thyrotropin/metabolism ; Thyroid Hormone Resistance Syndrome/blood ; Thyrotropin-Releasing Hormone ; Thyroxine/blood ; Transfection/methods ; Triiodothyronine/blood
Czasopismo naukowe
Tytuł :
Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
Autorzy :
Moeller LC; Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.
Alonso M
Liao X
Broach V
Dumitrescu A
Van Sande J
Montanelli L
Skjei S
Goodwin C
Grasberger H
Refetoff S
Weiss RE
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Źródło :
Endocrinology [Endocrinology] 2007 Oct; Vol. 148 (10), pp. 4727-33. Date of Electronic Publication: 2007 Jul 19.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Feedback, Physiological/*physiology
Pituitary Gland/*metabolism
Receptors, Thyrotropin/*metabolism
Thyroid Gland/*metabolism
Amino Acid Sequence ; Animals ; Animals, Genetically Modified ; Cattle ; Chromosome Mapping ; Chromosomes/physiology ; Introns ; Osmolar Concentration ; Promoter Regions, Genetic/physiology ; RNA, Messenger/metabolism ; Rats ; Rats, Inbred BN ; Rats, Inbred Dahl ; Receptors, Thyrotropin/genetics ; Thyroid Function Tests ; Thyrotropin/genetics ; Thyrotropin/pharmacology ; Thyrotropin/physiology ; Thyrotropin, beta Subunit/genetics ; Thyroxine/blood
Czasopismo naukowe
Tytuł :
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Autorzy :
Ringkananont U; Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA.
Van Durme J
Montanelli L
Ugrasbul F
Yu YM
Weiss RE
Refetoff S
Grasberger H
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Źródło :
Molecular endocrinology (Baltimore, Md.) [Mol Endocrinol] 2006 Apr; Vol. 20 (4), pp. 893-903. Date of Electronic Publication: 2005 Dec 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Point Mutation*
Hyperthyroidism/*genetics
Hyperthyroidism/*metabolism
Receptors, Thyrotropin/*chemistry
Receptors, Thyrotropin/*genetics
Amino Acid Substitution ; Base Sequence ; DNA/genetics ; Female ; Genes, Dominant ; Heterozygote ; Humans ; In Vitro Techniques ; Infant ; Kinetics ; Male ; Models, Molecular ; Mutagenesis, Site-Directed ; Pedigree ; Protein Structure, Secondary ; Receptors, Thyrotropin/metabolism ; Recombinant Proteins/chemistry ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Thermodynamics ; Transfection
Czasopismo naukowe
Tytuł :
Glycoprotein hormone receptors: link between receptor homodimerization and negative cooperativity.
Autorzy :
Urizar E; IRIBHM, Université Libre de Bruxelles, Campus Erasme, Brussels, Belgium.
Montanelli L
Loy T
Bonomi M
Swillens S
Gales C
Bouvier M
Smits G
Vassart G
Costagliola S
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Źródło :
The EMBO journal [EMBO J] 2005 Jun 01; Vol. 24 (11), pp. 1954-64. Date of Electronic Publication: 2005 May 12.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Receptors, FSH/*chemistry
Receptors, LH/*chemistry
Receptors, Thyrotropin/*chemistry
Allosteric Regulation ; Animals ; Bacterial Proteins/analysis ; Binding Sites ; Cell Line ; Cell Membrane/metabolism ; Cyclic AMP/biosynthesis ; Dimerization ; Fluorescence Resonance Energy Transfer ; Horses ; Humans ; Kidney ; Luminescent Proteins/analysis ; Models, Molecular ; Protein Binding ; Protein Interaction Mapping ; Protein Multimerization ; Protein Structure, Tertiary ; Receptors, FSH/metabolism ; Receptors, LH/metabolism ; Receptors, Thyrotropin/metabolism ; Recombinant Fusion Proteins/chemistry ; Recombinant Fusion Proteins/metabolism ; Sus scrofa ; Thyroid Gland/metabolism ; Transfection
Czasopismo naukowe
Tytuł :
TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism.
Autorzy :
Tonacchera M; Dipartimento di Endocrinologia e Metabolismo, Università di Pisa, Pisa, Italy. />Perri A
De Marco G
Agretti P
Montanelli L
Banco ME
Corrias A
Bellone J
Tosi MT
Vitti P
Martino E
Pinchera A
Chiovato L
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Źródło :
Journal of endocrinological investigation [J Endocrinol Invest] 2003 Oct; Vol. 26 (10), pp. 997-1000.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Down Syndrome/*complications
GTP-Binding Protein alpha Subunits, Gs/*genetics
Hypothyroidism/*complications
Receptors, Thyrotropin/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; DNA/chemistry ; DNA/genetics ; Down Syndrome/genetics ; Female ; Humans ; Hypothyroidism/genetics ; Male ; Polymerase Chain Reaction ; Polymorphism, Genetic/genetics ; Sequence Analysis, DNA ; Thyroid Function Tests
Czasopismo naukowe
    Wyświetlanie 1-6 z 6

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